Canonical Allele Identifier: CA869019054
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1554712832
gnomAD v3: 9-97851948-C-CCA
gnomAD v4: 9-97851948-C-CCA
MyVariant Identifiers: chr9:g.100614230_100614231insCA (hg19) chr9:g.97851948_97851949insCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851949_97851950insAC , CM000671.2:g.97851949_97851950insAC GRCh38
NC_000009.11:g.100614231_100614232insAC , CM000671.1:g.100614231_100614232insAC GRCh37
NC_000009.10:g.99654052_99654053insAC NCBI36
NG_011979.1:g.3695_3696insAC

Transcript Alleles

HGVS Amino-acid change
XR_930158.1:n.218+927_218+928insTG
XR_930159.1:n.218+927_218+928insTG
XR_930160.1:n.218+927_218+928insTG
XR_930161.1:n.218+927_218+928insTG
NR_147055.1:n.165+967_165+968insTG
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